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COVID-19 research


Amber List (moderate evidence)

KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1)
EnsemblGeneIds (GRCh38): ENSG00000121774
EnsemblGeneIds (GRCh37): ENSG00000121774
OMIM: 602489, Gene2Phenotype
KHDRBS1 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: KHDRBS1 (SAM68) was identified through an OMIM search for potential viral susceptibility genes. Based on initial triage by Illumina (Tier 5 grouping) and additional curation, added to panel as Amber. Functional evidence to suggest KHDRBS1 (SAM68) may serve as a proviral factor facilitate viral replication through interaction with the viral genome. A number of papers report interaction of KHDRBS1 (SAM68) and viral elements (e.g. PMIDs:26695943, 26202240, 27057671, 15701759) to positive regulate viral infection (although the viral processes affected differ between papers).
Created: 21 May 2020, 3:06 p.m. | Last Modified: 21 May 2020, 3:06 p.m.
Panel Version: 0.265
Notes from Julie Taylor and Alison Coffey (Illumina): KHDRBS1 belongs to the evolutionarily conserved signal transduction activator of RNA (STAR) family of RNA-binding proteins. These proteins play key roles during cell differentiation and development (summary by Bianchi et al., 2010). Cote et al. (2003, PMID:12529443) noted that KHDRBS1 (SAM68) can export unspliced human immunodeficiency virus (HIV) RNAs, and they found that treatment of cells with methylase inhibitors prevented the ability of KHDRBS1 (SAM68) to export unspliced HIV RNAs from transfected COS-7 cells.
Created: 21 May 2020, 3:04 p.m. | Last Modified: 21 May 2020, 3:04 p.m.
Panel Version: 0.264
PMID:31068419. Qin et al., 2019 report that KHDRBS1 (SAM68) promotes hepatitis C virus (HCV) replication without affecting viral translation. HCV infection triggers the translocation of the SAM68 protein from the nucleus to the cytoplasm, where it interacts with the HCV RNA genome.
Sources: Other
Created: 21 May 2020, 3:03 p.m.

Mode of inheritance



Mode of Inheritance
  • Expert Review Amber
  • Other
Clinvar variants
Variants in KHDRBS1
Panels with this gene

History Filter Activity

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: khdrbs1 has been classified as Amber List (Moderate Evidence).

21 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Rebecca Foulger (Genomics England curator)

gene: KHDRBS1 was added gene: KHDRBS1 was added to COVID-19 research. Sources: Other Mode of inheritance for gene: KHDRBS1 was set to Unknown Publications for gene: KHDRBS1 were set to 12529443; 26695943; 26202240; 27057671; 15701759; 31068419